A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963055



Internal ID18251611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42592710..42597005hg38UCSC Ensembl
Innerchr19:43096862..43101157hg19UCSC Ensembl
Innerchr19:47788702..47792997hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg384296
hg194296
hg184296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2150690, nssv2150687, nssv2150684, nssv2150683, nssv2150691, nssv2150682, nssv2150685, nssv2150686, nssv2150689, nssv2150688
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCEACAM8, LIPE-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963055
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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